Parent-of-Origin Effects in Retinoblastoma: Epigenetic Drivers of Tumor Risk and Progression
Funded at University of Washington · NIH-11337130 · Data updated 2026-11-12
A study using long-read DNA sequencing to understand how the parent of origin of RB1 gene variants affects retinoblastoma risk and progression, with potential to guide personalized monitoring and treatment.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 10, 2026 |
| Project end | July 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $460,481 |
| NIH project number | 1R01CA311124-01 |
| Project ID | NIH-11337130 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21 years or older) with RB1-related conditions and germline RB1 variants eligible for epigenetic and genetic profiling.
✕Less likely to help
Patients without RB1 germline variants or without access to long-read sequencing technologies may not benefit from this approach.
What this research studies
This project focuses on people with RB1-related retinoblastoma to see how the parent from which a genetic variant comes influences disease severity and response to treatment. It will use advanced long-read sequencing to read both genetic and epigenetic information on the same DNA molecules, enabling clear assignment of variant origin. By linking these parent-of-origin patterns to clinical outcomes, the study aims to identify biomarkers that predict risk of secondary cancers and guide future therapies that consider epigenetic context.
Why it matters
Potential benefit: If successful, patients could receive more tailored risk assessments and treatment plans based on their RB1 variant origin.
How similar studies have gone: Prior work shows RB1 variant context influences cancer biology; this project extends to epigenetic and phasing analysis using long-read sequencing, which is a newer approach.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Mustafi, Debarshi — University of Washington
- Study coordinator: Mustafi, Debarshi
Related research
Other NIH-funded projects on the same topics.
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Understanding how premalignant retinoblastoma lesions form and progress in children
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A tiny eye-fluid test to predict and track retinoblastoma in young children
This project uses a very small sample of eye fluid to look for tumor DNA that could help predict how retinoblastoma will behave and to follow treatment in children.
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Handheld wide-view 3D eye scanner to find tiny retinoblastoma tumors
This project is building a new handheld 3D eye scanner intended to help find very small retinoblastoma tumors early in young children who need screening.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.